ClinVar Miner

List of variants in gene TH reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NC_000011.10:g.2171856C>T	rs1372180906

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